ClinVar Miner

Submissions for variant NM_013254.4(TBK1):c.1960-10G>T

dbSNP: rs371275822
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000553403 SCV000656243 benign Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 2023-10-11 criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000625326 SCV000744950 likely benign Glaucoma 1, open angle, P 2016-07-25 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000625326 SCV000745755 likely benign Glaucoma 1, open angle, P 2016-09-20 no assertion criteria provided clinical testing

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